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21.
We report on the third patient with serpentine fibula-polycystic kidney syndrome. Main features in the three reported cases were growth retardation, abnormal face, hirsutism, short neck, bowed forearms and lower legs due to bowed radii and elongated serpentine fibulae, and metatarsus adductus. Two patients including our own were deaf. All were mentally normal, all were female and sporadic. In addition, we report on a girl with Melnick-Needles syndrome and illustrate the similarities and differences between these syndromes. 相似文献
22.
George A. Taylor E. David Mellits William H. Zinkham Brigid G. Leventhal 《Pediatric blood & cancer》1982,10(5):489-496
We retrospectively studied intravenous urograms (IVU) performed at presentation on 108 children with acute leukemia in order to determine whether any association existed between an abnormal IVU and known prognostic factors at presentation, initial renal function, and outcome. Sixteen patients (14%) had abnormal IVUs. These patients were compared to the remainder of the group and found to be comparable in respect to known prognostic factors at diagnosis (P >0.05). No correlation was found between abnormal renal function and an abnormal IVU. Renal enlargement was associated with shorter survival only in patients who had both adenopathy and hepatosplenomegaly (P <0.01). This effect did not persist in any other group of patients examined. When subjected to multivariate analysis the IVU did not significantly influence relapse or survival in these patients. Renal enlargement may be a prognostic feature in some patients with childhood leukemia. Nevertheless routine evaluation by IVU is discouraged because of potential adverse affects of urographic contrast media and the availability of noninvasive ultrasound techniques. 相似文献
23.
Background: Type I glycogen storage disease (GSD-I) is an inherited disorder affecting glycogenolysis and gluconeogenesis. The characteristic manifestations are hepatomegaly, hypoglycemia, hyperlacticacidemia, hyperuricemia, and hyperlipidemia. Renal disease is regarded as a long-term complication and is reported mainly in older patients. Objective: We report the renal manifestations and renal ultrasonographic findings of GSD-I in infancy and early childhood in order to assess the role of renal sonography in the diagnosis of GSD-I. Materials and methods: We retrospectively reviewed our hospitals database for patients with GSD-I from January 1993 to September 2004. The records of five patients were reviewed for this study. These five patients were diagnosed when they were younger than 3 years old. Data extracted from the charts included the initial extrarenal and renal manifestations, laboratory data, and imaging studies. We analyzed the indications for, and results of, renal sonography. Results: In addition to the clinical presentations and laboratory abnormalities, all five children had nephromegaly and increased echogenicity on ultrasonography on their first visit, although only a minor degree of tubular dysfunction was noted clinically. Three of these five patients had nephrocalcinosis or renal stones or both. Conclusion: Hyperechoic large kidneys, nephrocalcinosis, and renal stones are common in GSD-I. They can be present in early infancy. Abnormalities on renal sonography might suggest GSD-I in a patient with suspected inborn errors of metabolism. 相似文献
24.
Foetal growth of kidneys, liver and spleen in intrauterine growth restriction: "programming" causing "metabolic syndrome" in adult age 总被引:1,自引:0,他引:1
Latini G De Mitri B Del Vecchio A Chitano G De Felice C Zetterström R 《Acta paediatrica (Oslo, Norway : 1992)》2004,93(12):1635-1639
BACKGROUND/AIMS: Epidemiological studies in humans link adult disease to abnormal growth in utero. In addition to general malnutrition of the foetus, preferential blood flow to the brain and heart may furthermore deprive organs such as the liver, spleen and kidneys of oxygen and macro- and micronutrients. As a consequence, these organs may not develop normally, which predisposes the individual to the so-called metabolic syndrome (syndrome X) in later life. The effects of foetal undernutrition on the growth of some abdominal organs were investigated by comparing the volume of the kidneys, spleen and liver in small-for-gestational-age (SGA) newborn infants with that in appropriate-for-gestational-age (AGA) newborn infants. METHODS: In 25 randomly selected AGA infants and 25 SGA infants, who were subdivided into three gestational age groups (<30, 30-36 and 37-40 wk) the volumes of the liver, kidneys and spleen were determined by ultrasonography. Organ volumes were estimated using the standard ellipsoid formula (longitudinal x anteroposterior x transverse diameter x pi/6). Liver/kidney, liver/spleen and kidney/spleen volume ratios were also determined. RESULTS: The volumes of the kidneys and liver differed significantly between AGA and SGA infants in all three gestational age groups (p < 0.0018 and p < 0.029, respectively). The fact that the spleen volume differed only in the 37-40 wk group (p = 0.0002) may indicate that there is a graded relationship across the whole range of normal birthweight. The correlation between the liver volume and birthweight differed significantly between SGA and AGA infants (r = 0.56 vs 0.84, p = 0.04). On the other hand, the volume ratios between the three organs were the same in all groups (p > 0.15). CONCLUSION: In intrauterine growth retarded infants, foetal growth of the liver and kidneys is more impaired than the body as a whole. Retarded foetal development of these organs may cause metabolic dysfunction, which predisposes to the group of diseases included in the so-called metabolic syndrome or syndrome X. 相似文献
25.
《Journal of pediatric urology》2020,16(1):33.e1-33.e8
26.
《Drug and chemical toxicology》2013,36(3):316-324
As recommended by OECD Guidelines, percutaneous penetration studies consider intact skin, but rarely injured skin. Recent years have witnessed a growing concern for these two types of dermal exposure in the industry, particularly in the nuclear industry. The aim of this study was to show that a method based on an in vitro device can be used to realistically assess how skin-barrier alterations caused by occupational accidents can modify the percutaneous penetration and distribution of radionuclides, particularly uranium. Wounds encountered in the nuclear industry (i.e., nitric acid burns and abrasion) were simulated on hairless rat skin. Skin-barrier alterations were characterized by means of a histological study and by measuring transepidermal water loss (TEWL) and skin thickness. The percutaneous penetration of uranyl nitrate through intact or injured skin biopsies was then measured in vitro. The maximum uranium flux values obtained for intact skin, skin abrasion with stratum corneum removal, and skin exposed to 2 N HNO3, 5 N HNO3, and 14 N HNO3 were, respectively, 0.6?±?0.02, 1.2?±?0.03, 1.2?±?0.04, 42.0?±?1.0, and 174.0?±?8.7?ng.cm?2.h?1. These results demonstrated that the percutaneous absorption of uranium increased with the increased impairment of the stratum corneum. TEWL, combined with maximum uranium flux values measured in vitro, yielded a good prediction of the percutaneous penetration of uranium through injured skin, previously observed in vivo. To conclude, this in vitro assay provides a conservative estimate of the percutaneous diffusion of uranium through intact or injured skin, making it a good alternative method for toxicological studies and risk assessments. 相似文献
27.
R. A. Montgomery S. Katznelson W. I. Bry A. A. Zachary J. Houp J. M. Hiller S. Shridharani D. John A. L. Singer D. L. Segev 《American journal of transplantation》2008,8(10):2163-2168
Providing transplantation opportunities for patients with incompatible live donors through kidney paired donation (KPD) is seen as one of the important strategies for easing the crisis in organ availability. It has been estimated that an additional 1000—2000 transplants per year could be accomplished if a national KPD program were implemented in the United States. While most of these transplants could be arranged within the participants' local or regional area, patients with hard‐to‐match blood types or broad HLA sensitization would benefit from matching across larger geographic areas. In this case, either patients or organs would need to travel in order to obtain maximum benefit from a national program. In this study, we describe how a triple KPD enabled a highly sensitized patient (PRA 96%) to receive a well‐matched kidney from a live donor on the opposite coast. The kidney was removed in San Francisco and transported to Baltimore where it was reperfused 8 h later. The patient had prompt function and 1 year later has a serum creatinine of 1.1 mg/dl. This case provides a blueprint for solving some of the complexities that are inherent in the implementation of a national KPD program in a large country like the United States. 相似文献
28.
Maria Heloisa M. Shimizu Rildo A. VolpiniAna Carolina de Bragança Renata CamposDaniele Canale Talita R. SanchesLúcia Andrade Antonio C. Seguro 《Experimental gerontology》2013
The aim of this study was to evaluate the effects of N-acetylcysteine (NAC) on renal function, as well as on sodium and water transporters, in the kidneys of aged rats. Normal, 8-month-old male Wistar rats were treated (n = 6) or not (n = 6) with NAC (600 mg/L in drinking water) and followed for 16 months. At the end of the follow-up period, we determined inulin clearance, serum thiobarbituric acid reactive substances (TBARS), serum cholesterol, and urinary phosphate excretion. In addition, we performed immunohistochemical staining for p53 and for ED-1-positive cells (macrophages/monocytes), together with Western blotting of kidney tissue for NKCC2, aquaporin 2 (AQP2), urea transporter A1 (UT-A1) and Klotho protein. At baseline, the two groups were similar in terms of creatinine clearance, proteinuria, cholesterol, and TBARS. At the end of the follow-up period, NAC-treated rats presented greater inulin clearance and reduced proteinuria, as well as lower serum cholesterol, serum TBARS, and urinary phosphate excretion, in comparison with untreated rats. In addition, NAC-treated rats showed upregulated expression of NKCC2, AQP2, and UT-A1; elevated Klotho protein expression, low p53 expression, and few ED-1 positive cells. In conclusion, we attribute these beneficial effects of NAC (the significant improvements in inulin clearance and in the expression of NKCC2, AQP2, and UT-A1) to its ability to decrease oxidative stress, inhibit p53 expression, minimize kidney inflammation, and stimulate Klotho expression. 相似文献
29.
Jyotsna Murthy Ramesh Babu Padmasani Venkat Ramanan 《Indian Journal of Plastic Surgery》2008,41(1):76-78
The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the Baller-Gerold syndrome. Genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases. 相似文献
30.
N. Reed Dunnick M.D. Robert F. Ozols John A. Long Jr. Robert C. Young 《Abdominal imaging》1981,6(1):69-72
Peritoneoscopy is a valuable nonsurgical procedure for evaluating patients with malignant disease. Directed biopsies of suspected tumor masses may be obtained, and peritoneoscopy can frequently obviate the need for laparotomy. Although the complication rate is low, the radiologist must be aware of potential problems. Radiologists may participate not only in the diagnosis and localization of these complications but also in their therapy by interventional techniques. The radiographic findings in four patients with complications of peritoneoscopy are presented. 相似文献